GTP cyclohydrolase 1 deficiency (Q105032): Difference between revisions

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+August 2026Timestamp +2026-08-16T00:00:00Z
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Latest revision as of 10:56, 17 August 2026

GTP-cyclohydrolase I deficiency is an autosomal recessive inborn error of metabolism that causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, together with defective neurotransmission of monoamines. The principal manifestations include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing.

Language	Label	Description	Also known as
default for all languages	ID_987168605
English	GTP cyclohydrolase 1 deficiency	GTP-cyclohydrolase I deficiency is an autosomal recessive inborn error of metabolism that causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, together with defective neurotransmission of monoamines. The principal manifestations include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing.